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©The Author(s) 2024.
World J Clin Pediatr. Dec 9, 2024; 13(4): 100493
Published online Dec 9, 2024. doi: 10.5409/wjcp.v13.i4.100493
Published online Dec 9, 2024. doi: 10.5409/wjcp.v13.i4.100493
Patient number | Sex | Age at clinical Dx (year) | Time from clinical Dx to molecular Dx (year) | First presentation | Growth and nutritional status | Biochemical result | Follow-up time (year) | Clinical and biological profiles at the last follow-up | |||||||||||
AST (U/L) | ALT (U/L) | BS (mg/dL) | TC (mg/dL) | TG (mg/dL) | Uric Acid (mg/dL) | Growth and nutritional status | AST (U/L) | ALT(U/L) | BS (mg/dL) | TC (mg/dL) | TG (mg/dL) | Uric Acid (mg/dL) | |||||||
GSD I | |||||||||||||||||||
5 | F | 14.7 | 12.52 | Hepatomegaly, recurrent epistaxis | Wasting/ stunting | 118 | 67 | 53 | 210 | 376 | 8.6 | 13.8 | Stunting | 33 | 28 | 58 | 179 | 396 | 9.7 |
GSD III | |||||||||||||||||||
3 | F | 3.02 | 8.49 | Hepatomegaly | Normal | 4302 | 1341 | 48 | 241 | 622 | 5.1 | 11.5 | Overweight | 510 | 375 | 72 | 205 | 124 | 8 |
4 | F | 1.43 | 12.22 | Hepatomegaly | Normal | 629 | 547 | 20 | 138 | 119 | 3.3 | 12.3 | Normal | 33 | 28 | 78 | 137 | 63 | 5.8 |
6 | M | 2.62 | 3.06 | Hepatomegaly, doll-like facies | Stunting | 1878 | 854 | 30 | 180 | 231 | 6.1 | 3.1 | Normal | 626 | 408 | 35 | 184 | 203 | 6.8 |
GSD VI | |||||||||||||||||||
2 | F | 1.75 | 9.24 | Hepatomegaly | Wasting | 746 | 736 | 56 | 305 | 335 | 6.9 | 12.5 | Normal | 15 | 14 | 83 | 137 | 89 | 6.1 |
7 | F | 3.08 | 2.08 | Hepatomegaly | Stunting | 72 | 64 | 92 | 256 | 189 | 4.3 | 2.1 | Normal | 55 | 40 | 72 | 226 | 104 | 5.9 |
8 | M | 1.35 | 1.10 | Hepatomegaly, doll-like facies | Overweight/ stunting | 920 | 665 | 55 | 246 | 303 | 3.9 | 1.8 | Overweight | 72 | 90 | 86 | 170 | 100 | 5.4 |
GSD IX | |||||||||||||||||||
1 | M | 1.7 | 2.75 | Hepatomegaly, doll-like facies | Stunting | 1531 | 439 | 34 | 145 | 159 | 5.3 | 6.48 | Overweight/stunting | 161 | 78 | 84 | 145 | 97 | 5.2 |
- Citation: Vanduangden J, Ittiwut R, Ittiwut C, Phewplung T, Sanpavat A, Sintusek P, Suphapeetiporn K. Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand. World J Clin Pediatr 2024; 13(4): 100493
- URL: https://www.wjgnet.com/2219-2808/full/v13/i4/100493.htm
- DOI: https://dx.doi.org/10.5409/wjcp.v13.i4.100493